MYPN
Myopalladin
Gene Information Card
| Symbol | MYPN |
|---|---|
| Full Name | Myopalladin |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 84665 ncbi.nlm.nih.gov/gene/84665 |
| Ensembl ID | ENSG00000171953 |
| UniProt ID | Q86TC9 |
| OMIM ID | 608517 |
| HGNC ID | 23246 |
| Aliases | MYOPALLADIN, C10orf113, FLJ12681 |
Description
MYPN encodes myopalladin, a sarcomeric protein that localizes to the Z-disc and I-band of striated muscle. It interacts with alpha-actinin, nebulin, and titin, playing a critical role in sarcomere assembly and maintenance. Mutations in MYPN are associated with dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy (DCM) | Disruption of sarcomere integrity due to MYPN mutations leads to impaired contractility and cardiac dilation. | ClinVar, OMIM |
| Restrictive cardiomyopathy (RCM) | MYPN mutations cause abnormal diastolic function by altering Z-disc structure and signaling. | ClinVar, OMIM |
| Cardiomyopathy, familial hypertrophic (HCM) | Rare MYPN variants may contribute to hypertrophic phenotype via sarcomeric dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.3 | High |
| Esophagus | 4.2 | Low |
| Adipose tissue | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 35.0 | High expression |
| Skeletal muscle myoblasts | 18.7 | Moderate expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2719C>T (p.Arg907Trp) | Missense | Rare | Associated with DCM; disrupts titin binding |
| c.2032G>A (p.Glu678Lys) | Missense | Rare | Reported in RCM; alters Z-disc localization |
| c.1129_1131del (p.Lys377del) | In-frame deletion | Rare | Loss of function; linked to DCM |
Mutation functional classification
Loss of Function (LOF)
MYPN loss-of-function mutations (e.g., truncations, deletions) impair sarcomere assembly, leading to dilated cardiomyopathy.
Gain of Function (GOF)
No clear gain-of-function mutations reported for MYPN.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg907Trp) act via dominant-negative mechanism by disrupting protein-protein interactions at the Z-disc.
View complete mutation data：
Gene Ontology (GO)
| • sarcomere organization | • Z-disc |
| • actin binding | • muscle contraction |
| • protein binding |
Pathways
• Cardiac muscle contraction
• Sarcomere assembly
• Striated muscle contraction
Protein Summary
Myopalladin is a 1,320-amino acid protein (UniProt Q86TC9) that localizes to the Z-disc and I-band of striated muscle. It contains an N-terminal domain that binds alpha-actinin and a C-terminal domain that interacts with titin and nebulin. Myopalladin is essential for maintaining sarcomeric integrity and mechanosensing in cardiac and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYPN Knockout HEK293 Cell Line | EDJ-KQ10154 | Human | 84665 | Details Get a Quote |
| MYPN Knockout A-549 Cell Line | EDJ-KQ37257 | Human | 84665 | Details Get a Quote |
| MYPN Knockout HeLa Cell Line | EDJ-KQ37258 | Human | 84665 | Details Get a Quote |
| MYPN Knockout HCT 116 Cell Line | EDJ-KQ74560 | Human | 84665 | Details Get a Quote |
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